Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy.

ABSTRACT:

Objective

In utero SMA treatment could improve survival and neurologic outcomes. We investigated the attitudes of patients and parents with SMA regarding prenatal diagnosis, fetal therapies, and clinical trials.

Methods

A multidisciplinary team designed a questionnaire that Cure SMA electronically distributed to parents and patients (>18 years old) affected by SMA. Multivariable ordinal logistic regression was used to analyze associations between respondent characteristics and attitudes.

Results

Of 114 respondents (60% of whom were patients), only 2 were prenatally diagnosed. However, 91% supported prenatal testing and 81% felt there had been a delay in their diagnosis. Overall, 55% would enroll in a phase I trial for fetal antisense oligonucleotide (ASO) while 79% wo

SUBMITTER: Schwab ME 

PROVIDER: S-EPMC10128916 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature